Canonical Allele Identifier: CA177103

Gene: MYH9

Linked Data

• ClinVar Variation Id: 164442
• ClinVar RCV Id: RCV000151335 ; RCV000268989 ; RCV000363597 ; RCV000767070 ; RCV000990431
• dbSNP Id: rs200901330
• ExAC: 22:36691696 A / G
• gnomAD v2: 22-36691696-A-G
• gnomAD v3: 22-36295650-A-G
• gnomAD v4: 22-36295650-A-G
• MyVariant Identifiers: chr22:g.36691696A>G (hg19) ; chr22:g.36295650A>G (hg38)
• PubMed: PMID:11590545 ; PMID:20588287 ; PMID:24643058 ; PMID:25077172

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36295650A>G , CM000684.2:g.36295650A>G	GRCh38
NC_000022.10:g.36691696A>G , CM000684.1:g.36691696A>G	GRCh37
NC_000022.9:g.35021642A>G	NCBI36
NG_011884.2:g.97369T>C , LRG_567:g.97369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685801.1:c.3403T>C	ENSP00000510688.1:p.Ser1135Pro
ENST00000691109.1:n.3635T>C
ENST00000216181.11:c.3340T>C MANE Select	ENSP00000216181.6:p.Ser1114Pro
ENST00000216181.9:c.3340T>C	ENSP00000216181.5:p.Ser1114Pro
ENST00000459960.1:n.549T>C
NM_002473.5:c.3340T>C , LRG_567t1:c.3340T>C	NP_002464.1:p.Ser1114Pro
XM_011530197.1:c.3340T>C	XP_011528499.1:p.Ser1114Pro
XM_011530197.2:c.3340T>C	XP_011528499.1:p.Ser1114Pro
XM_017028803.1:c.3340T>C	XP_016884292.1:p.Ser1114Pro
XM_017028804.1:c.3340T>C	XP_016884293.1:p.Ser1114Pro
XM_017028805.1:c.3340T>C	XP_016884294.1:p.Ser1114Pro
XM_017028806.1:c.3340T>C	XP_016884295.1:p.Ser1114Pro
NM_002473.6:c.3340T>C MANE Select	NP_002464.1:p.Ser1114Pro